ARID2, AT-rich interaction domain 2, 196528

N. diseases: 167; N. variants: 13
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs7316454
rs7316454 		12 45806613 intron variant G/T snv 0.14
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2018 2018
dbSNP: rs772995852
rs772995852 		1.000 12 45852441 stop gained C/G;T snv 1.2E-05
CUI: C4540499
Disease: COFFIN-SIRIS SYNDROME 6
COFFIN-SIRIS SYNDROME 6 		0.700 1.000 1 2015 2015
dbSNP: rs1555155263
rs1555155263 		1.000 12 45851563 frameshift variant TTAC/- delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 4 2005 2017